Dramatic response after functional hemispherectomy in a patient with epileptic encephalopathy carrying a de novo COL4A1 mutation
| Autor: | Naomi Hino-Fukuyo, Hiroki Kudo, Masaki Iwasaki, Tetsuya Niihori, Natsuko Arai-Ichinoi, Tojo Nakayama, Yuki Kubota, Ryo Funayama, Yoko Aoki, Tasuku Suzuki, Ryo Sato, Shigeo Kure, Kazuhiro Haginoya, Yuko Sato, Keiko Nakayama, Tomoko Kobayashi, Atsuo Kikuchi |
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| Rok vydání: | 2017 |
| Předmět: |
Collagen Type IV
medicine.medical_specialty Hemispherectomy 03 medical and health sciences Epilepsy 0302 clinical medicine Developmental Neuroscience medicine Humans Epilepsy surgery 030212 general & internal medicine medicine.diagnostic_test business.industry Brain Magnetic resonance imaging General Medicine Perioperative medicine.disease Porencephaly Surgery Treatment Outcome Hemiparesis Child Preschool Mutation Pediatrics Perinatology and Child Health Mutation (genetic algorithm) Female Neurology (clinical) medicine.symptom Abnormality business 030217 neurology & neurosurgery |
| Zdroj: | Brain and Development. 39:337-340 |
| ISSN: | 0387-7604 |
| Popis: | We describe the first case of a successful functional hemispherectomy in a patient with epileptic encephalopathy and a de novo collagen type IV alpha 1 (COL4A1) mutation. A 4-year-old girl was COL4A1 mutation-positive and suffered from drug-resistant epilepsy, hemiplegia, and developmental delay. Magnetic resonance imaging detected no porencephaly, and she had no cataract or renal abnormality. Following a presurgical evaluation for epilepsy, she underwent a functional hemispherectomy. She has been seizure free with no intracranial hemorrhage or other perioperative complications. Patients with a COL4A1 mutation have an increased risk for intracranial hemorrhage because of disrupted integrity in the vascular basement membrane due to the mutation. After weighing the risks and benefits to these patients, epilepsy surgery may not be absolutely contraindicated. Furthermore, pediatric neurologists should be aware of an undiagnosed COL4A1 mutation when a patient presents with an unexplained neurological phenotype, such as mild hemiparesis, even in the absence of porencephaly. |
| Databáze: | OpenAIRE |
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